ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter)

dbSNP: rs1060502505
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473065 SCV000549916 pathogenic Legius syndrome 2016-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 141 (p.Gln141*) of the SPRED1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in SPRED1 are known to be pathogenic (PMID: 17704776).

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